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Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504.
J Med Genet. 2024.
PMID: 37833060
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.
Zivony-Elboum Y, et al. Among authors: rod r.
J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20.
J Med Genet. 2012.
PMID: 22717650
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